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Cold Spring Harbor: Very personal sequencing

Cold Spring Harbor: Very personal sequencing

Posted on behalf of Brendan Maher At the second annual personal genomes meeting at Cold Spring Harbor Laboratory in New York this week, bioentrepreneur Hugh Rienhoff updated conference-goers on his very personal quest to find a molecular diagnosis for his daughter Beatrice (pictured). Recently, he’s enlisted the help of second-generation sequencing giant Illumina to sequence all the genes expressed into messenger RNA from his daughter’s white blood cells, as well as that from his wife and himself in hopes that sequencing the three might flush out a genetic defect responsible for the five-year-old’s mysterious constellation of symptoms, which include low  … Read more

The BA Festival of Science: Wrap-up (or Indulge me a minute)

Posted by Katrina Charles, BA Media Fellow So as the press centre winds down, and the festival comes to a close, I thought I would quickly wrap up the festival through the adventures of the other BA Media Fellows before we all go back to our day jobs.  Read more

The BA Festival of Science: Death by bladder stone

Posted by Katrina Charles, BA Media Fellow This morning I went to see a speaker talk about the tragic death of a young girl, killed by a chronic urinary tract infection. This infection resulted in the growth of bladder stone, leading after some years to renal failure and finally death. Why is this special? Because this girl died between 1,000 and 1,300 years ago and the rare find of a urinary stone provides a wealth of data for forensic scientists.  Read more